Gene: SBDS

Alternate names for this Gene: CGI-97|SDS|SWDS

Gene Summary: This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. Mutations within this gene are associated with the autosomal recessive disorder Shwachman-Bodian-Diamond syndrome. This gene has a closely linked pseudogene that is distally located.

Gene is located in Chromosome: 7

Location in Chromosome : 7q11.21

Description of this Gene: SBDS ribosome maturation factor

Type of Gene: protein-coding

Gene: TYW1

Alternate names for this Gene: RSAFD1|TYW1A|YPL207W

Gene Summary: Wybutosine (yW) is a hypermodified guanosine found in phenylalanine tRNA adjacent to the anticodon that stabilizes codon-anticodon interactions in the ribosome. In yeast, the homolog of this gene is essential for the synthesis of wybutosine. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 7

Location in Chromosome : 7q11.21

Description of this Gene: tRNA-yW synthesizing protein 1 homolog

Type of Gene: protein-coding

rs373730800 in SBDS;TYW1 gene and SHWACHMAN-DIAMOND SYNDROME 1 PMID 24898207 2014 Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.

PMID 12496757 2003 Mutations in SBDS are associated with Shwachman-Diamond syndrome.

PMID 22191555 2011 Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.

PMID 21536732 2011 Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.